ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

5 associated genes
17 signs/symptoms

Congenital lethal myopathy, Compton-North type

Hypothyroidism due to deficient transcription factors involved in pituitary development or function


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CNTN1	(0.63)	PROP1

Citations in the biomedical literature:

Congenital lethal myopathy, Compton-North type		Hypothyroidism due to deficient transcription factors involved in pituitary development or function

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references

Hypothyroidism due to deficient transcription factors involved in pituitary development or function
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Sleep and vigilance disorders - Umbilical hernia Frequent - Cleft lip and palate - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Septo-optic dysplasia - Short stature / dwarfism / nanism
Congenital lethal myopathy, Compton-North type
(no data available)